A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586098



Internal ID6626411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54611414..54617267hg38UCSC Ensembl
Innerchr1:54611448..54617234hg38UCSC Ensembl
Outerchr1:54611381..54617301hg38UCSC Ensembl
chr1:55077087..55082940hg19UCSC Ensembl
Innerchr1:55077121..55082907hg19UCSC Ensembl
Outerchr1:55077054..55082974hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385854
hg195854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932440
SamplesHG01817
Known GenesACOT11, FAM151A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586098
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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